Metaphyseal acroscyphodysplasia

MedGen UID:: 344453
•Concept ID:: C1855243
•: Disease or Syndrome

Synonyms:	Cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly; Wedge-shaped epiphyses of knees
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0009592
OMIM®:	250215
Orphanet:	ORPHA1240

Definition

Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMetaphyseal acroscyphodysplasia

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Metaphyseal acroscyphodysplasia

Follow this link to review classifications for Metaphyseal acroscyphodysplasia in Orphanet.

Recent clinical studies

Etiology

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V
Eur J Hum Genet 2018 Nov;26(11):1611-1622. Epub 2018 Jul 13 doi: 10.1038/s41431-018-0135-1. PMID: 30006632 Free PMC Article

Dutch variant of Bellini metaphyseal dysplasia: report of two siblings.

Kozlowski K, Meradji M, Beemer FA
Australas Radiol 1995 Aug;39(3):282-6. doi: 10.1111/j.1440-1673.1995.tb00293.x. PMID: 7487766

See all (2)

Diagnosis

Structural and vascular features in cavitary congenital optic disc anomaly associated with metaphyseal acroscyphodysplasia.

Fossataro F, D'Andrea L, Cennamo G
Eur J Ophthalmol 2022 Jul;32(4):NP34-NP37. Epub 2021 Feb 14 doi: 10.1177/1120672121995745. PMID: 33583233

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.

Mitsui T, Kim OH, Hall CM, Offiah A, Johnson D, Jin DK, Toh TH, Soneda S, Keino D, Matsubayashi S, Ishii T, Nishimura G, Hasegawa T
Am J Med Genet A 2014 Oct;164A(10):2529-34. Epub 2014 Jul 10 doi: 10.1002/ajmg.a.36669. PMID: 25044890

See all (2)